Varaico: Literature-Extracted Genetic Variants

Gene:ARID5B
Variant:p.E531fs

ARID5B

277 papers

RefSeq Summary

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regula...

Pfam Domains

ARIDaa 320–406UCSCARID/BRIGHT DNA binding domain
ARIDaa 320–406UCSCARID/BRIGHT DNA binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 5B

HGNC Alias Symbols

FLJ21150; MRF2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032199.3
p.E531fs
c.1591_1592fs
Surrounding Variants
1 paper
NM_032199.3
p.E532Q
c.1594G>C
1 paper
NM_032199.3
p.A533V
c.1598C>T
1 paper
NM_032199.3
p.T520K
c.1559C>A
2 papers
NM_032199.3
p.E519K
c.1555G>A
2 papers
NM_032199.3
p.P546S
c.1636C>T
1 paper
NM_032199.3
p.P546L
c.1637C>T
1 paper
NM_032199.3
p.E515K
c.1543G>A
1 paper
NM_032199.3
p.L547P
c.1640T>C
1 paper
NM_032199.3
p.A505A
c.1515G>A
1 paper
NM_032199.3
p.A505V
c.1514C>T
1 paper
NM_032199.3
p.Y500fs
c.1498_1499fs
1 paper
NM_032199.3
p.Q562R
c.1685A>G
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